Crigler–Najjar syndrome

Also known as: UGT1A1 deficiency, severe

Severe unconjugated hyperbilirubinemia from absent UGT1A1 activity.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Hepatology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal onset
Gene(s) involved: UGT1A1

Etiology & mechanism

Complete or severe deficiency of bilirubin glucuronidation.

Gene(s) involved (1)

UGT1A1

Symptoms & signs (6)

hypotoniaintellectual disabilitykernicterusneonatal jaundiceopisthotonusseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.